Canonical Allele Identifier: CA331220

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90527
• ClinVar RCV Id: RCV000076022
• MyVariant Identifiers: chr2:g.47656661_47663325del (hg19) ; chr2:g.47429522_47436186del (hg38)
• PubMed: PMID:16541406

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429522_47436186del , CM000664.2:g.47429522_47436186del	GRCh38
NC_000002.11:g.47656661_47663325del , CM000664.1:g.47656661_47663325del	GRCh37
NC_000002.10:g.47510165_47516829del	NCBI36
NG_007110.2:g.31399_38063del , LRG_218:g.31399_38063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1077-220_1276+6245del
ENST00000233146.7:c.1077-220_1276+6245del
ENST00000543555.6:c.879-220_1078+6245del
ENST00000644092.1:c.1077-220_1276+6245del
ENST00000645339.1:c.1077-220_1276+6245del
ENST00000645506.1:c.1077-220_1276+6245del
ENST00000646415.1:c.1077-220_1276+6245del
ENST00000233146.6:c.1077-220_1276+6245del
ENST00000406134.5:c.1077-220_1276+6245del
ENST00000543555.5:c.879-220_1078+6245del
ENST00000610696.4:c.1077-220_1276+6245del
ENST00000613514.4:c.1077-220_1276+6245del
ENST00000617333.3:c.1077-220_*42+6245del
ENST00000617938.4:c.*49-220_*248+6245del
ENST00000621359.2:c.1077-220_1276+6245del
NM_000251.2:c.1077-220_1276+6245del , LRG_218t1:c.1077-220_1276+6245del
NM_001258281.1:c.879-220_1078+6245del
XM_005264332.2:c.1077-220_1276+6245del
XM_011532867.1:c.1077-220_1276+6245del
XR_939685.1:n.1149-220_1348+6245del
XM_005264332.4:c.1077-220_1276+6245del
XM_011532867.2:c.1077-220_1276+6245del
XR_001738747.2:n.1139-220_1338+6245del
XR_939685.2:n.1139-220_1338+6245del
NM_000251.3:c.1077-220_1276+6245del